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R. Hufnagel · SciRah

Researcher profile · Semantic Scholar

R. Hufnagel

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R. Hufnagel — researcher profile on SciRah

h-index: 30
Works: 172
Citations: 2,948

Most-cited papers

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
P. Magini, Daphne J. Smits, Laura V. Vandervore, R. Schot +48 more
2019American Journal of Human Genetics63 citations Open access
Semantic Scholar
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
C. Kozycki, Shilpa Kodati, Laryssa A. Huryn, Hongying Wang +66 more
2022Annals of the Rheumatic Diseases62 citations Open access
Semantic Scholar
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Hui Guo, Ying Li, Lu Shen, Tianyun Wang +69 more
2019Science Advances53 citations Open access
Semantic Scholar
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network
Kerry E. Goetz, Melissa J. Reeves, Shaina Gagadam, D. Blain +5 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics47 citations Open access
Semantic Scholar
Neuropathy target esterase (NTE/PNPLA6) and organophosphorus compound-induced delayed neurotoxicity (OPIDN)
R. Richardson, J. Fink, P. Glynn, R. Hufnagel +2 more
2020Advances in neurotoxicology46 citations Open access
Semantic Scholar
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort
Melissa J. Reeves, Kerry E. Goetz, Bin Guan, Ehsan Ullah +4 more
2020Human Mutation42 citations Open access
Semantic Scholar
Building the Mega Single Cell Transcriptome Ocular Meta-Atlas
Vinay S. Swamy, Temesgen D. Fufa, R. Hufnagel, David M. McGaughey
2021bioRxiv40 citations Open access
Semantic Scholar
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation with Other Measures of Disease Severity
J. Duncan, Wendi Liang, M. Maguire, I. Audo +17 more
2020American journal of ophthalmology-glaucoma39 citations Open access
Semantic Scholar
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration
K. Miyagishima, Ruchi Sharma, Malika Nimmagadda, Katharina Clore-Gronenborn +23 more
2021Communications Biology35 citations Open access
Semantic Scholar
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
L. Prasov, Bin Guan, Ehsan Ullah, S. Archer +19 more
2020Scientific Reports32 citations Open access
Semantic Scholar
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation with Disease Severity
E. Lad, J. Duncan, Wendi Liang, M. Maguire +21 more
2022American journal of ophthalmology-glaucoma31 citations Open access
Semantic Scholar
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy
Laryssa A. Huryn, C. Kozycki, Jasmine Y Serpen, W. Zein +9 more
2022Ophthalmology (Rochester, Minn.)30 citations Open access
Semantic Scholar
Atypical and Ultra-rare Usher Syndrome: A Review
Rosalie Nolen, R. Hufnagel, T. Friedman, Amy E. Turriff +7 more
2020Ophthalmic Genetics28 citations Open access
Semantic Scholar
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
M. M. da Palma, Austin D Igelman, C. Ku, A. Burr +24 more
2021Investigative Ophthalmology and Visual Science27 citations Open access
Semantic Scholar
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
L. Prasov, B. Bohnsack, A. S. El Husny, L. Tsoi +24 more
2021Journal of Medical Genetics26 citations Open access
Semantic Scholar
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M. Richard, S. Bakhtiari, Ashley P. L. Marsh, R. Kaiyrzhanov +101 more
2021American Journal of Human Genetics24 citations Open access
Semantic Scholar
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
E. Schiff, M. Varela, A. Robson, K. Pierpoint +13 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics24 citations Open access
Semantic Scholar
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature
M. Varela, Priyam Jani, W. Zein, Precilla D'Souza +7 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics23 citations Open access
Semantic Scholar
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study
R. Hufnagel, Wendi Liang, J. Duncan, C. Brewer +15 more
2022Human Mutation22 citations Open access
Semantic Scholar
Conserved Gsx2/Ind homeodomain monomer versus homodimer DNA binding defines regulatory outcomes in flies and mice
Joseph Salomone, Shenyue Qin, Temesgen D. Fufa, Brittany Cain +7 more
2020Genes & Development21 citations Open access
Semantic Scholar
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates
M. Pfau, Catherine A. Cukras, Laryssa A. Huryn, W. Zein +9 more
2022JCI Insight20 citations Open access
Semantic Scholar
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
T. Pfister, W. Zein, Catherine A. Cukras, H. Sen +3 more
2021Investigative Ophthalmology and Visual Science20 citations Open access
Semantic Scholar
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
R. Schnur, Saira Yousaf, James Liu, W. Chung +23 more
2021Genetics in Medicine20 citations Open access
Semantic Scholar
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
Saumil Sethna, W. Zein, Sehar Riaz, A. Giese +9 more
2021eLife20 citations Open access
Semantic Scholar
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
S. S. Cornelis, M. Bauwens, L. Haer-Wigman, M. De Bruyne +5 more
2023Human Mutation18 citations Open access
Semantic Scholar
Active Cell Appearance Model Induced Generative Adversarial Networks for Annotation-Efficient Cell Segmentation and Identification on Adaptive Optics Retinal Images
Jian-Fei Liu, Christine Shen, N. Aguilera, Catherine A. Cukras +4 more
2021IEEE Transactions on Medical Imaging18 citations Open access
Semantic Scholar
A Novel Variant of ATP5MC3 associated with both dystonia and spastic paraplegia
D. Neilson, M. Zech, R. Hufnagel, J. Slone +14 more
2021Movement Disorders17 citations Open access
Semantic Scholar
PNPLA6 disorders: what’s in a name?
James Liu, R. Hufnagel
2023Ophthalmic Genetics15 citations Open access
Semantic Scholar
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging
Tao Liu, N. Aguilera, A. Bower, Joanne Li +9 more
2022Investigative Ophthalmology and Visual Science15 citations Open access
Semantic Scholar
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics
N. Aguilera, Tao Liu, A. Bower, Joanne Li +21 more
2022Communications Biology15 citations Open access
Semantic Scholar
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
J. Zernant, Winston Lee, Jun Wang, Kerry E. Goetz +10 more
2022PLoS Genetics15 citations Open access
Semantic Scholar
Review of Evidence for Environmental Causes of Uveal Coloboma
Evan B. Selzer, D. Blain, R. Hufnagel, P. Lupo +2 more
2021Survey of ophthalmology15 citations Open access
Semantic Scholar
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist
Rafael Mena, Esperanza Mendoza, Maria Gomez Peña, C. Valencia +3 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics15 citations Open access
Semantic Scholar
Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance
J. Ellingford, R. Hufnagel, G. Arno
2020Genes14 citations Open access
Semantic Scholar
Sensitive extraction-free SARS-CoV-2 RNA virus detection using a chelating resin
Bin Guan, K. Frank, J. Maldonado, M. Beach +3 more
2021iScience13 citations Open access
Semantic Scholar
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies
Volha V. Malechka, Catherine A. Cukras, E. Chew, Y. Sergeev +7 more
2022Genes12 citations Open access
Semantic Scholar
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults
Malena Daich Varela, Ehsan Ullah, Saira Yousaf, B. Brooks +2 more
2020Investigative Ophthalmology and Visual Science12 citations Open access
Semantic Scholar
Ocular and Systemic Findings in Adults with Uveal Coloboma
M. Varela, Laryssa A. Huryn, R. Hufnagel, W. Zein +2 more
2020Ophthalmology (Rochester, Minn.)12 citations Open access
Semantic Scholar
Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy
S. A. Sheikh, Robert A. Sisk, Cara R. Schiavon, Y. M. Waryah +9 more
2019Investigative Ophthalmology and Visual Science12 citations Open access
Semantic Scholar
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15
Matthew D. Benson, Souvick Mukherjee, Aime R. Agather, D. Blain +9 more
2023Investigative Ophthalmology and Visual Science11 citations Open access
Semantic Scholar
Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy
Joanne Li, Tao Liu, Oliver J. Flynn, Amy E. Turriff +11 more
2021Frontiers in Aging Neuroscience11 citations Open access
Semantic Scholar
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure
Elangovan Boobalan, A. H. Thompson, Ramakrishna P. Alur, David M. McGaughey +23 more
2022bioRxiv10 citations Open access
Semantic Scholar
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia
Volha V. Malechka, D. Duong, Keyla D. Bordonada, Amy E. Turriff +10 more
2022Ophthalmology Science10 citations Open access
Semantic Scholar
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations
V. Utz, Diana S Brightman, M. Sandoval, R. Hufnagel +1 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics10 citations Open access
Semantic Scholar
Natural-History of Visual Dysfunction in ABCA4-retinopathy and its Genetic Correlates
M. Pfau, Laryssa A. Huryn, Marisa P. Boyle, Catherine A. Cukras +6 more
2023American journal of ophthalmology-glaucoma9 citations Open access
Semantic Scholar
A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis
Tzu-Ni Sin, Sangbae Kim, Yumei Li, Jun Wang +15 more
2023Investigative Ophthalmology and Visual Science9 citations Open access
Semantic Scholar
A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases
Karen E. Lee, J. Pulido, M. M. da Palma, Rebecca A. Procopio +2 more
2023Genes9 citations Open access
Semantic Scholar
Auditory and Olfactory Findings in Patients with USH2A-related Retinal Degeneration – Findings at Baseline from the Rate of Progression in USH2A-related Retinal Degeneration Natural History Study (RUSH2A)
A. Iannaccone, C. Brewer, Pei-Yao Cheng, J. Duncan +12 more
2021American Journal of Medical Genetics. Part A9 citations Open access
Semantic Scholar
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort
L. Prasov, Ehsan Ullah, Amy E. Turriff, B. Warner +4 more
2020American Journal of Medical Genetics. Part A9 citations Open access
Semantic Scholar
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma
Bhavana Kunisetty, Bailey A. Martin-Giacalone, Xiao-Nan Zhao, Pamela N. Luna +7 more
2024Investigative Ophthalmology and Visual Science8 citations Open access
Semantic Scholar

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